Level 3: Clinical trials
Level 2: Actionable information
Version 0.9
|
review
|
Not set
|
Sources
- Expert Review Green
- ClinicalTrials.gov
Phenotypes
- Spinal Muscular Atrophy Type 1
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Version 19.201
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Spinal muscular atrophy 1, 253300
- Spinal muscular atrophy 2, 253550
- Spinal muscular atrophy 3, 253400
- Spinal muscular atrophy 4, 271150
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- arthrogryposis
- Spinal muscular atrophy-1, 253300
- Spinal muscular atrophy-2, 253550
- Spinal muscular atrophy-3, 253400
- Spinal muscular atrophy-4, 271150
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.32
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Yorkshire and North East GLH
- NHS GMS
- Expert Review
Phenotypes
- Spinal muscular atrophy-4, 271150
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- Spinal muscular atrophy 253550
- Spinal muscular atrophy 271150
- Spinal muscular atrophy 253400
- Spinal muscular atrophy 253300
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 3.6
Latest signed off version: v3.3
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Spinal muscular atrophy 1, OMIM:253300
- Spinal muscular atrophy 2, OMIM:253550
- Spinal muscular atrophy 3, OMIM:253400
- Spinal muscular atrophy 4, OMIM:271150
Tags
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
Phenotypes
- Spinal muscular atrophy-3, OMIM:253400
- Spinal muscular atrophy-4, OMIM:271150
- Spinal muscular atrophy-2, OMIM:253550
- Spinal muscular atrophy-1, OMIM:253300
Tags
|
Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert list
- Expert Review Green
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Spinal muscular atrophy-3, OMIM:253400
- Spinal muscular atrophy-4, OMIM:271150
- Spinal muscular atrophy-2, OMIM:253550
- Spinal muscular atrophy-1, OMIM:253300
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Spinal muscular atrophy-3, 253400
- Spinal muscular atrophy-4, 271150
- Spinal muscular atrophy-2, 253550
- Spinal muscular atrophy-1, 253300
|
Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
|